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MeSH Review

Allelic Imbalance

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Disease relevance of Allelic Imbalance


Psychiatry related information on Allelic Imbalance


High impact information on Allelic Imbalance


Chemical compound and disease context of Allelic Imbalance


Biological context of Allelic Imbalance


Anatomical context of Allelic Imbalance


Associations of Allelic Imbalance with chemical compounds


Gene context of Allelic Imbalance

  • Human APC2 localization and allelic imbalance [23].
  • On the other hand, a high frequency of MGMT promoter methylation (32 out of 69, 46%) was found, as well as allelic imbalances at 10q markers (50 out of 70, 71%) [24].
  • Allelic imbalance at FHIT was observed in 35 out of 55 informative (heterozygous: H) cases (64%) [25].
  • Although sequence variations and allelic imbalance were identified in FGFR2, none of the previously documented dominant mutations was detected in any of the tumour types examined [26].
  • With more than 50 per cent of tumour cells in the samples, 66.6 per cent (18/27) of AR and 39.1 per cent (9/23) of MAOA informative cases showed allelic imbalance, with a combined frequency of 72.4 per cent (21/29) of both genes [27].

Analytical, diagnostic and therapeutic context of Allelic Imbalance


  1. Chromosomal allelic imbalance evolving from liver cirrhosis to hepatocellular carcinoma. Yeh, S.H., Chen, P.J., Shau, W.Y., Chen, Y.W., Lee, P.H., Chen, J.T., Chen, D.S. Gastroenterology (2001) [Pubmed]
  2. Podocalyxin variants and risk of prostate cancer and tumor aggressiveness. Casey, G., Neville, P.J., Liu, X., Plummer, S.J., Cicek, M.S., Krumroy, L.M., Curran, A.P., McGreevy, M.R., Catalona, W.J., Klein, E.A., Witte, J.S. Hum. Mol. Genet. (2006) [Pubmed]
  3. Allelic imbalance at NME1 in microdissected primary and metastatic human colorectal carcinomas is frequent but not associated with metastasis to lymph nodes or liver. Lamb, R.F., Going, J.J., Pickford, I., Birnie, G.D. Cancer Res. (1996) [Pubmed]
  4. Clinicopathological significance of Fhit protein expression in stage I non-small cell lung carcinoma. Tomizawa, Y., Nakajima, T., Kohno, T., Saito, R., Yamaguchi, N., Yokota, J. Cancer Res. (1998) [Pubmed]
  5. Correlating genetic aberrations with World Health Organization-defined histology and stage across the spectrum of thymomas. Inoue, M., Starostik, P., Zettl, A., Ströbel, P., Schwarz, S., Scaravilli, F., Henry, K., Willcox, N., Müller-Hermelink, H.K., Marx, A. Cancer Res. (2003) [Pubmed]
  6. Lack of allelic imbalance in APOE epsilon3/4 brain mRNA expression in Alzheimer's disease. Growdon, W.B., Cheung, B.S., Hyman, B.T., Rebeck, G.W. Neurosci. Lett. (1999) [Pubmed]
  7. Allelic imbalances in human bladder cancer: genome-wide detection with high-density single-nucleotide polymorphism arrays. Primdahl, H., Wikman, F.P., von der Maase, H., Zhou, X.G., Wolf, H., Orntoft, T.F. J. Natl. Cancer Inst. (2002) [Pubmed]
  8. Assessment of plasma DNA levels, allelic imbalance, and CA 125 as diagnostic tests for cancer. Chang, H.W., Lee, S.M., Goodman, S.N., Singer, G., Cho, S.K., Sokoll, L.J., Montz, F.J., Roden, R., Zhang, Z., Chan, D.W., Kurman, R.J., Shih, I.e.M. J. Natl. Cancer Inst. (2002) [Pubmed]
  9. Kruppel-like factor 6 (KLF6) is a tumor-suppressor gene frequently inactivated in colorectal cancer. Reeves, H.L., Narla, G., Ogunbiyi, O., Haq, A.I., Katz, A., Benzeno, S., Hod, E., Harpaz, N., Goldberg, S., Tal-Kremer, S., Eng, F.J., Arthur, M.J., Martignetti, J.A., Friedman, S.L. Gastroenterology (2004) [Pubmed]
  10. Genetic abnormalities during transition from Helicobacter-pylori-associated gastritis to low-grade MALToma. Calvert, R., Randerson, J., Evans, P., Cawkwell, L., Lewis, F., Dixon, M.F., Jack, A., Owen, R., Shiach, C., Morgan, G.J. Lancet (1995) [Pubmed]
  11. Cis- and trans-acting gene regulation is associated with osteoarthritis. Mahr, S., Burmester, G.R., Hilke, D., Gobel, U., Grutzkau, A., Haupl, T., Hauschild, M., Koczan, D., Krenn, V., Neidel, J., Perka, C., Radbruch, A., Thiesen, H.J., Muller, B. Am. J. Hum. Genet. (2006) [Pubmed]
  12. Thymidylate synthase expression in colon carcinomas with microsatellite instability. Sinicrope, F.A., Rego, R.L., Halling, K.C., Foster, N.R., Sargent, D.J., La Plant, B., French, A.J., Allegra, C.J., Laurie, J.A., Goldberg, R.M., Witzig, T.E., Thibodeau, S.N. Clin. Cancer Res. (2006) [Pubmed]
  13. Gastric marginal zone B-cell lymphomas of MALT type develop along 2 distinct pathogenetic pathways. Starostik, P., Patzner, J., Greiner, A., Schwarz, S., Kalla, J., Ott, G., Müller-Hermelink, H.K. Blood (2002) [Pubmed]
  14. Allelotype analysis of mouse lung carcinomas reveals frequent allelic losses on chromosome 4 and an association between allelic imbalances on chromosome 6 and K-ras activation. Hegi, M.E., Devereux, T.R., Dietrich, W.F., Cochran, C.J., Lander, E.S., Foley, J.F., Maronpot, R.R., Anderson, M.W., Wiseman, R.W. Cancer Res. (1994) [Pubmed]
  15. Neuroblastic and Schwannian stromal cells of neuroblastoma are derived from a tumoral progenitor cell. Mora, J., Cheung, N.K., Juan, G., Illei, P., Cheung, I., Akram, M., Chi, S., Ladanyi, M., Cordon-Cardo, C., Gerald, W.L. Cancer Res. (2001) [Pubmed]
  16. Molecular pathology and clinical characteristics of oligodendroglial neoplasms. Walker, C., du Plessis, D.G., Joyce, K.A., Fildes, D., Gee, A., Haylock, B., Husband, D., Smith, T., Broome, J., Warnke, P.C. Ann. Neurol. (2005) [Pubmed]
  17. Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. Ivanov, S.V., Ward, J.M., Tessarollo, L., McAreavey, D., Sachdev, V., Fananapazir, L., Banks, M.K., Morris, N., Djurickovic, D., Devor-Henneman, D.E., Wei, M.H., Alvord, G.W., Gao, B., Richardson, J.A., Minna, J.D., Rogawski, M.A., Lerman, M.I. Am. J. Pathol. (2004) [Pubmed]
  18. Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma. Koch, C.A., Huang, S.C., Moley, J.F., Azumi, N., Chrousos, G.P., Gagel, R.F., Zhuang, Z., Pacak, K., Vortmeyer, A.O. Oncogene (2001) [Pubmed]
  19. Low frequency of allelic imbalance at the prostate cancer susceptibility loci HPC1 and 1p36 in Swedish men with hereditary prostate cancer. Ahman, A.K., Jonsson, B.A., Damber, J.E., Bergh, A., Emanuelsson, M., Grönberg, H. Genes Chromosomes Cancer (2000) [Pubmed]
  20. Allelotype analysis of the PTEN, Smad4 and DCC genes in biliary tract cancer. Suto, T., Sugai, T., Habano, W., Uesugi, N., Kanno, S., Saito, K., Nakamura, S. Anticancer Res. (2002) [Pubmed]
  21. Allelotype analysis in mouse hepatocellular carcinomas; frequent homozygous deletion of mouse homolog of p16/CDKN2 gene on chromosome 4 in culture. Miyasaka, K., Fukui, T., Kitagawa, T. Biol. Pharm. Bull. (1996) [Pubmed]
  22. Simultaneous detection of variable number tandem repeats, single nucleotide polymorphisms, and allelic imbalance in the thymidylate synthase gene enhancer region using denaturing high-performance liquid chromatography. Ezzeldin, H., Hoffmayer, C., Soong, R., Johnson, M.R., Lee, A., Heslin, M., Diasio, R. Anal. Biochem. (2004) [Pubmed]
  23. Human APC2 localization and allelic imbalance. Jarrett, C.R., Blancato, J., Cao, T., Bressette, D.S., Cepeda, M., Young, P.E., King, C.R., Byers, S.W. Cancer Res. (2001) [Pubmed]
  24. Frequent promoter hypermethylation of the O6-Methylguanine-DNA Methyltransferase (MGMT) gene in testicular cancer. Smith-Sørensen, B., Lind, G.E., Skotheim, R.I., Fosså, S.D., Fodstad, Ø., Stenwig, A.E., Jakobsen, K.S., Lothe, R.A. Oncogene (2002) [Pubmed]
  25. Association of allelic loss at the FHIT locus and p53 alterations with tumour kinetics and chromosomal instability in non-small cell lung carcinomas (NSCLCs). Garinis, G.A., Gorgoulis, V.G., Mariatos, G., Zacharatos, P., Kotsinas, A., Liloglou, T., Foukas, P., Kanavaros, P., Kastrinakis, N.G., Vassilakopoulos, T., Vogiatzi, T., Field, J.K., Kittas, C. J. Pathol. (2001) [Pubmed]
  26. Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link. Hansen, R.M., Goriely, A., Wall, S.A., Roberts, I.S., Wilkie, A.O. J. Pathol. (2005) [Pubmed]
  27. Clonality analysis in tumours of women by PCR amplification of X-linked genes. Peng, H., Du, M., Diss, T.C., Isaacson, P.G., Pan, L. J. Pathol. (1997) [Pubmed]
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